Boceno M - Search Results

1

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Philippe HJ, Rival JM. Winer N, et al. Among authors: boceno m. Ultrasound Obstet Gynecol. 2003 Dec;22(6):648-51. doi: 10.1002/uog.916. Ultrasound Obstet Gynecol. 2003. PMID: 14689542 Free article.

2

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Le Caignec C, et al. Among authors: boceno m. Ann Genet. 2004 Jul-Sep;47(3):289-96. doi: 10.1016/j.anngen.2003.10.005. Ann Genet. 2004. PMID: 15337475 Review.

3

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM. Isidor B, et al. Among authors: boceno m. Eur J Med Genet. 2008 May-Jun;51(3):231-8. doi: 10.1016/j.ejmg.2007.12.010. Epub 2008 Jan 12. Eur J Med Genet. 2008. PMID: 18282818

4

Characterization of two add(4qter) chromosomes by comparative genomic hybridization.

Bocéno M, Rival JM, Nomballais MF, David A, Avet-Loiseau H. Bocéno M, et al. Ann Genet. 1998;41(2):83-6. Ann Genet. 1998. PMID: 9706338

5

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM. Le Caignec C, et al. Among authors: boceno m. Prenat Diagn. 2003 Feb;23(2):143-5. doi: 10.1002/pd.553. Prenat Diagn. 2003. PMID: 12575022 Review.

6

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.

Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Le Caignec C, et al. Among authors: boceno m. Prenat Diagn. 2003 Dec 15;23(12):981-4. doi: 10.1002/pd.742. Prenat Diagn. 2003. PMID: 14663834 Review.

7

Complete sex reversal in a WAGR syndrome patient.

Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM. Le Caignec C, et al. Among authors: boceno m. Am J Med Genet A. 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. Am J Med Genet A. 2007. PMID: 17935232

8

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. Le Gloan L, et al. Among authors: boceno m. Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15. Eur J Med Genet. 2008. PMID: 18775522

9

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

Isidor B, Le Cunff M, Boceno M, Boisseau P, Thomas C, Rival JM, David A, Le Caignec C. Isidor B, et al. Among authors: boceno m. Eur J Med Genet. 2008 Nov-Dec;51(6):679-84. doi: 10.1016/j.ejmg.2008.06.004. Epub 2008 Jul 11. Eur J Med Genet. 2008. PMID: 18672103

10

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. Among authors: boceno m. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

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